Canonical Allele Identifier: CA351319860
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240878790-C-T
COSMIC: COSM1018792
MyVariant Identifiers: chr2:g.241818207C>T (hg19) chr2:g.240878790C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878790C>T , CM000664.2:g.240878790C>T GRCh38
NC_000002.11:g.241818207C>T , CM000664.1:g.241818207C>T GRCh37
NC_000002.10:g.241466880C>T NCBI36
NG_008005.1:g.15046C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1148C>T MANE Select ENSP00000302620.3:p.Ala383Val
ENST00000307503.3:c.1148C>T ENSP00000302620.3:p.Ala383Val
ENST00000470255.1:n.926C>T
NM_000030.2:c.1148C>T NP_000021.1:p.Ala383Val
NM_000030.3:c.1148C>T MANE Select NP_000021.1:p.Ala383Val
Search 100 bp 5'
Search 100 bp 3'